LMPD Database

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LMP002129

Record overview

LMPD IDLMP002129
Gene ID114049
SpeciesHomo sapiens (Human)
Gene NameWilliams Beuren syndrome chromosome region 22
Gene SymbolWBSCR22
SynonymsHASJ4442; HUSSY-3; MERM1; PP3381; WBMT
Alternate namesprobable 18S rRNA (guanine-N(7))-methyltransferase; bud site selection protein 23 homolog; metastasis-related methyltransferase 1; ribosome biogenesis methyltransferase WBSCR22; Williams-Beuren syndrome chromosomal region 22 protein; Williams-Beuren candidate region putative methyltransferase
Chromosome7
Map Location7q11.23
EC Number2.1.1.-
SummaryThis gene encodes a protein containing a nuclear localization signal and an S-adenosyl-L-methionine binding motif typical of methyltransferases, suggesting that the encoded protein may act on DNA methylation. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternatively spliced transcript variants have been found. [provided by RefSeq, Feb 2011]
OrthologsView orthologs and multiple alignments for WBSCR22

Proteins

probable 18S rRNA (guanine-N(7))-methyltransferase isoform 1
Refseq ID:NP_001189489
Protein GI:321400149
UniProt ID:O43709
mRNA ID:NM_001202560
Length:298
RefSeq Status:REVIEWED
MASRGRRPEHGGPPELFYDETEARKYVRNSRMIDIQTRMAGRALELLYLPENKPCYLLDIGCGTGLSGSYLSDEGHYWVGLDISPAMLDEAVDREIEGDL
LLGDMGQGIPFKPGTFDGCISISAVQWLCNANKKSENPAKRLYCFFASLFSVLVRGSRAVLQLYPENSEQLELITTQATKAGFSGGMVVDYPNSAKAKKF
YLCLFSGPSTFIPEGLSENQDEVEPRESVFTNEREGGAFERRGIRGHQTRRFPLRMSRRGMVRKSRAWVLEKKERHRRQGREVRPDTQYTGRKRKPRF
 
probable 18S rRNA (guanine-N(7))-methyltransferase isoform 2
Refseq ID:NP_059998
Protein GI:23199995
UniProt ID:O43709
mRNA ID:NM_017528
Length:281
RefSeq Status:REVIEWED
MASRGRRPEHGGPPELFYDETEARKYVRNSRMIDIQTRMAGRALELLYLPENKPCYLLDIGCGTGLSGSYLSDEGHYWVGLDISPAMLDEAVDREIEGDL
LLGDMGQGIPFKPGTFDGCISISAVQWLCNANKKSENPAKRLYCFFASLFSVLVRGSRAVLQLYPENSEQLELITTQATKAGFSGGMVVDYPNSAKAKKF
YLCLFSGPSTFIPEGLSENQDEVEPRESVFTNERFPLRMSRRGMVRKSRAWVLEKKERHRRQGREVRPDTQYTGRKRKPRF